2020
DOI: 10.1590/2326-4594-jiems-2019-0011
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Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods

Abstract: Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement of Phe in plasma using highperformance liquid chromatography (HPLC) or in dried blood spots (DBS) using different techniques to adjust treatment strategy. The objective of this study was to evaluate Phe levels in DBS measured by two different methods and compare them with Phe levels measured in… Show more

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“…Samples with estimated results above the upper limit of quantitation (ULOQ), samples with insufficient volume, and questionable IS recovery due to matrix effects (ascribed to suppression or enhancement) are common reasons for dilution [ 108 , 119 ]. An approximation of the necessary dilution can be informed at the pre-analytical stage of analysis for patients with known elevations, such as patients with established inborn errors of metabolism [ 120 ]. LC-MS/MS assays do not require same-matrix approaches for the diluent as variations in the analytical recovery due to matrix can be mitigated through the use of the IS.…”
Section: Lc-ms/ms Quality Assurancementioning
confidence: 99%
“…Samples with estimated results above the upper limit of quantitation (ULOQ), samples with insufficient volume, and questionable IS recovery due to matrix effects (ascribed to suppression or enhancement) are common reasons for dilution [ 108 , 119 ]. An approximation of the necessary dilution can be informed at the pre-analytical stage of analysis for patients with known elevations, such as patients with established inborn errors of metabolism [ 120 ]. LC-MS/MS assays do not require same-matrix approaches for the diluent as variations in the analytical recovery due to matrix can be mitigated through the use of the IS.…”
Section: Lc-ms/ms Quality Assurancementioning
confidence: 99%